The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress. (June 2019)

• Record Type: Journal Article
• Authors: Arnett, Anne B; Trinh, Sandy; Bernier, Raphael A
• Is Part Of: Current opinion in psychology. Volume 27(2019)
• Page Start: 1
• Page End: 5
• Publication Date: 2019-06
• Subjects: Psychology -- Periodicals; 150.5
• DOI: 10.1016/j.copsyc.2018.07.004
• Languages: English
• ISSNs: 2352-250X

Abstract

Highlights: Heterogeneity in autism spectrum disorder presents a challenge to clinical care and research. Genetic sequencing indicates disruptive gene variants and CNVs account for over 30% of ASD cases. A genotype-first approach offers scientific, clinical and psychosocial benefits. Whole genome sequencing promises further advances in identifying genetic causes of ASD. Advancements in genomic sequencing precipitate progress toward precision medicine care for ASD. Abstract : Autism spectrum disorder (ASD) is a behaviorally heterogeneous disorder with a strong genetic component, as evidenced by decades of twin and family studies. In recent years, enhanced methods of genomic sequencing have revealed that structural variation and mutations to both coding and non-coding regions of single, candidate genes may account for more than 30% of ASD cases. The current review highlights a genotype-first approach that builds upon these molecular findings to parse the heterogeneity of ASD. Advantages of this approach include strong potential for precision medicine diagnosis and treatment, as well as opportunity to advance basic science research on neurodevelopmental disorders. Psychosocial benefits of identifying genetic subtypes of ASD have already been realized through social networking, comprehensive clinical phenotyping, and increased awareness among providers of rare genetic mutations.